causes polycythemia. True polycythemia: what is it, treatment, prognosis, symptoms, stages, signs

Polycythemia (synonymous with Wakez's disease) is a chronic disease of the hematopoietic system, characterized by a persistent increase in the amount of total blood volume, and increased production in the bone marrow of not only erythrocytes, but also leukocytes and.

Polycythemia belongs to the group of leukemias. Pathological anatomy reveals a sharp plethora of internal organs, often vascular thrombi, heart attacks, hemorrhages. In the bone marrow, the phenomena of hyperplasia (an increase in cellular elements) of an erythroblastic germ, in the diaphysis of long bones - the transformation of fatty bone marrow into red.

Polycythemia develops gradually and has a progressive course. Clinically manifested by dark red skin with a cyanotic tint, plethora of mucous membranes with possible bleeding from the gums, stomach, intestines, uterus, enlarged spleen and liver, hypertension. In the blood, the content of erythrocytes (6,000,000-10,000,000), hemoglobin (20-23 g%) is increased, it is slowed down to 1 mm in 1 or even 2 hours.

The course of the process is long, the prognosis worsens if the vessels of vital organs develop.

Treatment - in a hospital with repeated bloodletting, cytostatic drugs (myelosan, imifos, myelobromol).

Polycythemia red, true (polycythaemia, rubra, vera; from Greek poly - many, kytos - cell and haima - blood; synonym: erythremia, Wakez's disease) - a chronic disease of the hematopoietic apparatus of unknown etiology, characterized by a persistent increase in the number of red blood cells and total blood volume with the expansion of the bloodstream, an increase in the spleen and increased activity of the bone marrow, and the hyperplastic process concerns not only erythropoiesis, but also leuko- and thrombocytopoiesis.

Recently, the neoplastic theory of pathogenesis has been established. Polycythemia is considered an independent disease and belongs to the group of myeloproliferative leukemias, considering it as chronic erythromyelosis (see) with a predominant increase in the function of erythropoiesis.

Pathological anatomy reveals a sharp plethora of internal organs, often vascular thrombi, heart attacks, hemorrhages. The spleen is enlarged, hard, dark blue-red. The liver is often enlarged and may be cirrhotic. In the diaphysis of tubular bones - the transformation of fatty bone marrow into red. Hyperplasia of an erythroblastic germ in the bone marrow and in extramedullary foci of hematopoiesis retains the usual type of regeneration, hyperplasia of myeloid tissue sometimes becomes similar to leukemic. Significant hyperplasia of the megakaryocytic apparatus. These changes are also detected in the clinic with sternal puncture and more clearly with trepanobiopsy of the ilium.

Clinical course and symptoms. Polycythemia develops most often in old age (40-60 years), however, cases of the disease in young and even childhood have been described. The disease usually develops gradually. The life expectancy of patients from the moment of detection of the disease now reaches an average of 13.3 years [Lawrence (J. N. Lawrence)], and in some cases even up to 30 years or more (E. D. Oak and M. A. Yasinovsky).

A special color of the integument (erythrosis) is typical: intense dark red with a cherry tint, skin color, especially pronounced on the face and distal parts of the limbs; mucous membranes are bright red, often cyanotic; the injection of scleral vessels is noticeable, the gums are loosened, often bleed, periodontal disease is detected. Plethora with an increase in the mass of circulating blood by 2-4 times, with an increase in its viscosity significantly affects the state of the cardiovascular system and blood circulation, the blood flow rate decreases by 2-3 times or more. Hypertension is one of the most important and frequent symptoms of polycythemia. It is impossible to exclude the combination of polycythemia with hypertension. Of great importance are lesions of peripheral vessels with the development of obliterating thromboangiitis, and sometimes blockage of arteries with gangrene, thrombosis of cerebral vessels, coronary arteries, splenic and renal arteries with the formation of heart attacks, thrombosis of the portal vein and its branches. There are bleeding from the nose, gums, stomach, intestines, uterus, etc., hemorrhages in the brain, abdominal cavity, spleen.

Violations of the nervous system occur from the very beginning of the disease. According to the totality of neurological symptoms, separate syndromes can be distinguished: cerebrovascular insufficiency, neurasthenic, diencephalic, vegetative-vascular, polyneuritic and erythromelalgia.

Splenomegaly is observed in 2/3-3/4 of all cases. Enlargement and thickening of the liver is noted in 1/3-1/2 patients.

There are no marked changes in the condition of the kidneys.

The number of erythrocytes in 1 ml3 of blood is usually 6-10 million, in some cases - 12 million. The percentage of reticulocytes is relatively low. The content of hemoglobin reaches 120-140% (20-23 g%), rarely higher. The color index is below one. The number of leukocytes is increased (in more than 1/2 of patients) and sometimes reaches 20,000-25,000 or more per 1 mm 3, mainly due to neutrophils with a shift to the left to metamyelocytes and myelocytes. The greatest number of leukocytes and the appearance of younger forms is observed with the development of myeloid leukemia. The number of platelets also increases for the most part - up to 600,000 and even sometimes up to 1 million or more in 1 mm 3. ROE is slowed down to 1 mm for 1 and even 2 hours. The ratio between the mass volume of erythrocytes and plasma, determined using hematocrit, increases to 85:15. Quite frequent are pains in the bones with a change in the structure of their tissue, especially in the epimetaphyses of long tubular bones.

In the early stages, the appearance of neurovascular disorders acquires diagnostic value. With a pronounced picture of polycythemia, recognition is primarily based on the classic triad: erythrosis, polyglobulia, splenomegaly. Polycythemia should be distinguished from a number of conditions that are also characterized by an increase in the number of red blood cells per unit volume of blood - the so-called polyglobulia, or erythrocytosis. False polyglobulia is not associated with a real increase in the number of red blood cells in the peripheral blood, but occurs due to thickening of the blood, for example, with significant diarrhea and vomiting (for example, with cholera), increased sweating, and profuse diuresis. Symptomatic polyglobulia can be relative when the number of erythrocytes in the peripheral blood increases, mainly due to their redistribution (when the deposited blood is released), for example, during rapid ascent to altitude, acute heart and lung failure.

True absolute polyglobulia with a reactive increase in bone marrow erythropoiesis is of particular importance in differential diagnosis. Most often, it is associated with a prolonged anoxic state: in residents of highlands, with congenital heart defects, acquired defects with severe circulatory failure, sclerosis of the branches of the pulmonary artery, pneumosclerosis, pronounced emphysema and other lung diseases. This includes polyglobulia when exposed to toxic substances on hematopoiesis. They become important in the occurrence of polyglobulia and damage to the central nervous system (for example, the subthalamic region) by an inflammatory or neoplastic process, some endocrine disorders (Itsenko-Cushing's syndrome), etc. In the differential diagnosis between polycythemia and polyglobulia, an increase in the spleen, leukocytosis with a neutrophilic shift to the left indicate in favor of polycythemia , thrombocytosis, a significant increase in the total mass of blood and especially erythrocytes with a high hematocrit, trephine biopsy data, a significant increase in the activity of neutrophil alkaline phosphatase, a high rate of Fe69 absorption from plasma, etc.

The prognosis, given the progressive nature of the course of the disease, the absence of spontaneous remissions and spontaneous cure, is generally unfavorable, although with modern therapy, life and working capacity are preserved longer. The cause of death is most often vascular complications - thrombosis, hemorrhage, bleeding, circulatory failure or transition to the picture of myelosis or, more rarely, to hemocytoblastosis, to aplastic anemia due to the development of myelofibrosis and osteomyelosclerosis.

Treatment is pathogenetic. Bloodletting (usually 400-500 ml repeatedly at intervals of 2-3-5 days until a clear decrease in red blood values) is especially indicated for high blood pressure, the threat of cerebral complications and high hematocrit. This method gives relief only within the next few months, and is often used in combination with radiophosphorus therapy.

Radiation therapy is the most effective. It is more expedient to irradiate the entire body with X-rays.

In recent years, widely used radioactive phosphorus (P 32), which is administered on an empty stomach through the mouth in the form of NaHP 32 O 4 in 20-40 ml of 40% glucose solution, can also be used intravenously. Contraindications to the use of P 32 - liver disease with significant dysfunction, kidney disease, leukopenia (below 4000 in 1 mm 3), thrombocytopenia (below 150,000 in 1 mm 3).

Fractional administration of P 32 is more widespread (to receive 1.5 - 2 microcuries once every 4-7-10 days, in total for a course of 6-8 microcuries in accordance with the indicators of red blood and the weight of the patient). Prior to treatment with P 32, it is recommended to carry out 2-3 phlebotomies of 400-500 ml at intervals of 2-3 days, especially in patients with severe symptoms of cerebrovascular accident, the number of red blood cells above 7.5-8 million in 1 mm 3 and high indicators of hematocrit (65-70).

The clinical effect is felt already after 2-4 weeks, and hematological remission occurs after 2-4 months. after the start of treatment and usually lasts 2-3 years or more.

In the treatment of P 32, complications in the form of leukopenia, thrombocytopenia, and less often anemia, which are transient, can be observed.

Repeated courses of treatment with P 32 are prescribed for relapses of the disease.

Wakez's disease is a chronic disease, the cause of which is damage to the cell - the precursor of myelopoiesis, manifested by unlimited erythroid proliferation and the preserved ability of differentiation along 4 hematopoietic lineages. In terms of structure and average annual incidence rates, polycythemia ranks 4th after. Polycythemia is a disease predominantly of the elderly and old people (average age - 60 years). Cases of the disease are not uncommon in young and childhood. In young people, the disease is more unfavorable.

Symptoms:

Polycythemia is characterized by a long and relatively benign course.

In the clinical course, several stages are distinguished:

      *initial, or asymptomatic, stage, usually lasting 5 years, with minimal clinical manifestations;
      *stage IIA - erythremic advanced stage, without myeloid metaplasia of the spleen, its duration can reach 10-20 years;
      *stage IIB - erythremic extended stage, with myeloid metaplasia of the spleen;
      *stage III - stage of posterythremic myeloid metaplasia (anemic stage) with or without myelofibrosis; possible outcome in acute, chronic myeloid leukemia.

However, given the usual onset of the disease in the elderly and old people, not all patients go through all three stages.

In the history of many patients, long before the moment of diagnosis, there are indications of after associated with water procedures, "good", somewhat elevated red blood counts, duodenal ulcer. An increase in the mass of circulating erythrocytes leads to an increase in blood viscosity, stasis in the microvasculature, an increase in peripheral vascular resistance, therefore, the skin of the face, ears, tip of the nose, distal fingers and visible mucous membranes have a red-cyanotic color of varying degrees. Increased viscosity explains the high frequency of vascular, mainly cerebral, complaints: insomnia, a feeling of heaviness in the head, visual impairment,. Epileptiform seizures, paralysis are possible. Patients complain of progressive memory loss. In the initial stage of the disease, arterial hypertension is found in 35-40% of patients. Cellular hypercatabolism and partially ineffective erythropoiesis cause increased endogenous synthesis of uric acid and impaired urate metabolism. Clinical manifestations of urate (uric acid) diathesis - complicating the course of stage IIB and III. Visceral complications include gastric and duodenal ulcers, their frequency is, according to different authors, from 10 to 17%.

Vascular complications represent the greatest danger for patients with polycythemia. A unique feature of this disease is the simultaneous tendency to both thrombosis and bleeding. Microcirculatory disorders as a result of thrombophilia are manifested by erythromelalgia - a sharp reddening and swelling of the distal parts of the fingers and toes, accompanied by burning pain. Persistent erythromelalgia may be a harbinger of thrombosis of a larger vessel with the development of fingers, feet, and legs. coronary vessels observed in 7-10% of patients. The development of thrombosis is facilitated by a number of factors: age over 60 years, a history of vascular thrombosis, arterial hypertension, any localization, blood exfusion or plateletpheresis performed without prescribing anticoagulant or antiplatelet therapy. Thrombotic complications, in particular myocardial infarction, and are the most common cause of death in these patients.
manifested by spontaneous bleeding of the gums, nosebleeds, ecchymosis, characteristic of violations of the platelet-vascular hemostasis. The pathogenesis of microcirculatory bleeding depends mainly on a decrease in the aggregation of defective, neoplastic origin of platelets.

The spleen increases in stage IIA, the reason for this is the increased deposition and sequestration of blood cells. In stage IIB, splenomegaly is caused by progressive myeloid metaplasia. It is accompanied by a left shift in the leukocyte formula, erythrokaryocytosis. Liver enlargement often accompanies splenomegaly. Characteristic for both stages. The course of the posterythremic stage is variable. In some patients, it is quite benign, the spleen and liver increase slowly, the red blood counts remain within the normal range for a long time. At the same time, rapid progression of splenomegaly, increase, growth and development of blast transformation is also possible. Acute leukemia can develop both in the erythremic stage and in the stage of posterythremic myeloid metaplasia.

Causes of occurrence:

Erythrocytosis as one of the manifestations of the pathological process is often secondary, although in a number of regions there are cases of familial erythrocytosis (familial polycythemia, primary erythrocytosis), inherited in an autosomal recessive manner. It occurs in various geographical areas, the foci of the disease were first identified among the inhabitants of Chuvashia.
The main causes of secondary erythrocytosis include tissue hypoxia, both congenital and acquired, and a change in the content of endogenous erythropoietin.

Causes of secondary erythrocytosis:

   A. Congenital:
            1.high affinity of hemoglobin to oxygen;
            2.low 2,3-diphosphoglycerate;
            3. autonomous production of erythropoietin.
   Q. Purchased:
            1.arterial hypoxemia of physiological and pathological nature:
                     "blue" ;
                     chronic lung diseases;
                     smoking;
                     adaptation to high altitude conditions.
            2. kidney disease:
                     tumors;

                     cystic lesion;
                     diffuse diseases of the renal parenchyma;
                     stenosis of renal arteries.
            3. tumors:
                     cerebellar hemangioblastoma;
                        bronchial carcinoma.
            4.endocrine diseases:
                        adrenal tumors.
            5.liver diseases:
                     ;
                     cirrhosis;
                     Budd-Chiari syndrome;
                     hepatoma;
                     .

Treatment:

For treatment appoint:

Urgent Care. With polycythemia, the main danger is vascular complications. These are mainly gastrointestinal bleeding, pre-infarction, repeated pulmonary vessels, arterial and repeated venous thrombosis, i.e. emergency therapy for polycythemia is mainly aimed at stopping and further prevention of thrombotic and hemorrhagic complications.

planned therapy. Modern therapy of erythremia consists in the use of blood exfusions, cytostatic drugs, the use of radioactive phosphorus, a-interferon.

Bloodletting, which gives a quick clinical effect, can be an independent method of treatment or supplement cytostatic therapy. In the initial stage, proceeding with an increase in the content of erythrocytes, 2-3 phlebotomies of 500 ml are used every 3-5 days, followed by the introduction of adequate amounts of rheopolyglucin or saline. In patients with cardiovascular diseases, no more than 350 ml of blood is removed for 1 procedure, exfusions are no more than 1 time per week. Bloodletting does not control the number of leukocytes and platelets, sometimes causing reactive. Usually pruritus, erythromelalgia, gastric and duodenal ulcers are not eliminated by bloodletting. They can be replaced by erythrocytepheresis with replacement of the volume of removed erythrocytes with saline and rheopolyglucin. The procedure is well tolerated by patients and causes normalization of red blood counts for a period of 8 to 12 months.

Cytostatic therapy is aimed at suppressing the increased proliferative activity of the bone marrow, its effectiveness should be evaluated after 3 months. after the end of treatment, although the decrease in the number of leukocytes and platelets occurs much earlier.

The indication for cytostatic therapy is erythremia occurring with leukocytosis, thrombocytosis and splenomegaly, skin itching, visceral and vascular complications; insufficient effect of previous bloodletting, their poor tolerance.

Contraindications to cytostatic therapy - children's and youthful age of patients, refractoriness to treatment at previous stages, excessively active cytostatic therapy is also contraindicated due to the risk of hematopoietic depression.

The following drugs are used to treat erythremia:

*alkylating agents - myelosan, alkeran, cyclophosphamide.
*hydroxyurea, which is the drug of choice, at a dose of 40-50 mg/kg/day. After a decrease in the number of leukocytes and platelets, the daily dose is reduced to 15 mg / kg for 2-4 weeks, followed by a maintenance dose of 500 mg / day.

A new direction in the treatment of polycythemia is the use of interferon preparations, aimed at reducing myeloproliferation, platelet count and vascular complications. The time of onset of the therapeutic effect is 3-8 months. Normalization of all blood parameters is estimated as an optimal effect, a decrease in the need for erythrocyte exfusions by 50% is considered incomplete. During the period of achieving the effect, it is recommended to prescribe 9 million units / day 3 times a week, with the transition to a maintenance dose, selected individually. Treatment is usually well tolerated and is expected to last for many years. One of the undoubted advantages of the drug is the absence of leukemic action.

To improve the quality of life, patients undergo symptomatic therapy:

      *uric acid diathesis (with clinical manifestations, gout) requires constant intake of allopurinol (milurit) in a daily dose of 200 mg to 1 g;
      *erythromelalgia is an indication for the appointment of 500 mg of aspirin or 250 mg of methindol; in severe erythromelalgia, heparin is additionally indicated;
      *In case of vascular thrombosis, antiplatelet agents are prescribed, in case of hypercoagulability, according to the coagulogram, heparin should be prescribed in a single dose of 5000 IU 2-3 times a day. The dose of heparin is determined by the control of the coagulation system. In the prevention of thrombophilic complications, acetylsalicylic acid is most effective, but its use threatens with hemorrhagic dose-dependent complications. For the basic prophylactic dose of aspirin, 40 mg of the drug per day is taken;
      *skin itching is somewhat relieved by antihistamines; Interferon has a significant, but slower (not earlier than 2 months) effect.

Polycythemia is a disease that can be assumed just by looking at the patient's face. And if you still conduct the necessary blood test, then there will be no doubt at all. In reference books, it can also be found under other names: erythremia and Wakez's disease.

Redness of the face is quite common and there is always an explanation for this. In addition, it is short-term and does not linger for a long time. Various reasons can cause sudden reddening of the face: fever, high blood pressure, a recent tan, an awkward situation, and emotionally labile people tend to blush often, even if others do not see any prerequisites for this.

Polycythemia is different. Here redness is persistent, not transient, evenly distributed over the entire face. The color of an overly “healthy” plethora is saturated, bright cherry.

What kind of disease is polycythemia?

True polycythemia (erythremia, Wakez's disease) belongs to the group of hemoblastoses (erythrocytosis) or chronic with a benign course. The disease is characterized by the growth of all three hematopoietic sprouts with a significant advantage of erythrocyte and megakaryocytic, due to which there is an increase not only in the number of red blood cells - but also in other blood cells that originate from these sprouts, where the source of the tumor process is the affected progenitor cells of myelopoiesis. It is they who begin uncontrolled proliferation and differentiation into mature forms of erythrocytes.

Most affected under such conditions are immature red blood cells, which are hypersensitive to erythropoietin even at low doses. With polycythemia at the same time, an increase in granulocytic leukocytes is also observed(primarily stab and neutrophils)and platelets. The cells of the lymphoid series, which include lymphocytes, are not affected by the pathological process, since they come from a different germ and have a different way of reproduction and maturation.

Cancer or not cancer?

Erythremia - not to say that it occurs all the time, however, there are a couple of people in a town of 25 thousand people, while for some reason men of 60 or so “love” this disease more, although any person can meet with such a pathology age. True, for newborns and young children, true polycythemia is absolutely not typical, therefore if erythremia is found in a child, then most likely she will wear secondary character and be a symptom and consequence of another disease (toxic dyspepsia, stress erythrocytosis).

For many people, a disease classified as leukemia (whether acute or chronic) is primarily associated with blood cancer. Here it is interesting to understand: is it cancer or not? In this case, it would be more expedient, clearer and more correct to talk about the malignancy or benignity of true polycythemia in order to determine the boundary between "good" and "evil". But, since the word "cancer" refers to tumors from epithelial tissues, then in this case this term is inappropriate, because this tumor comes from hematopoietic tissue.

Wakez disease refers to malignant tumors , but it is characterized by high differentiation of cells. The course of the disease is long and chronic, for the time being qualified as benign. However, such a course can only last up to a certain point, and then with proper and timely treatment, but after a certain period of time, when significant changes in erythropoiesis occur, the disease becomes acute and acquires more “evil” features and manifestations. Here it is - true polycythemia, the prognosis of which will completely depend on how quickly its progression occurs.

Why do sprouts grow incorrectly?

Any patient suffering from erythremia, sooner or later asks the question: "Why did this" disease happen "to me?". The search for the cause of many pathological conditions is usually useful and gives certain results, increases the effectiveness of treatment and promotes recovery. But not in the case of polycythemia.

The causes of the disease can only be assumed, but not definitely stated. Only one clue can be for the doctor when determining the origin of the disease - genetic abnormalities. However, the pathological gene has not yet been found, so the exact localization of the defect has not yet been determined. There are, however, suggestions that Wakez's disease may be associated with trisomy 8 and 9 pairs (47 chromosomes) or other violation of the chromosomal apparatus, for example, the loss of a section (deletion) of the long arm C5, C20, but this is still guesswork, although built on conclusions of scientific research.

Complaints and clinical picture

If there is nothing to say about the causes of polycythemia, then we can talk about clinical manifestations for a long time and a lot. They are bright and varied, since already from the 2nd degree of development of the disease, literally all organs are drawn into the process. Subjective sensations of the patient are of a general nature:

Weakness and constant feeling of fatigue;
Significant decrease in performance;
increased sweating;
Headaches and dizziness;
Marked memory loss;
Visual and auditory disorders (decrease).

Complaints characteristic of this disease and characterized by it:

Acute burning pain in the fingers and toes (the vessels are clogged with platelets and red blood cells, which form small aggregates there);
Soreness, though not so burning, in the upper and lower limbs;
Itching of the body (a consequence of thrombosis), the intensity of which increases markedly after a shower and a hot bath;
Periodic appearance of a rash such as urticaria.

It's obvious that cause all these complaints microcirculation disorder.

As the disease progresses, more and more new symptoms are formed:

skin and mucous membranes due to the expansion of capillaries;
Pain in the region of the heart, resembling;
Pain in the left hypochondrium caused by overload and enlargement of the spleen due to the accumulation and destruction of platelets and red blood cells (it is a kind of depot for these cells);
Enlargement of the liver and spleen;
Peptic ulcer of the stomach and 12 duodenal ulcer;
Dysuria (difficulty urinating) and pain in the lumbar region due to the development of uric acid diathesis, which was caused by a shift in the blood buffer systems;
Pain in bones and joints as a result hyperplasia(overgrowth) bone marrow;
Gout;
Manifestations of a hemorrhagic nature: bleeding (nose, gums, intestinal) and skin hemorrhages;
Injections of the vessels of the conjunctiva, which is why the eyes of such patients are called "rabbit eyes";
Tendency to and arteries;
shins;
Possible thrombosis of the coronary vessels with development;
Intermittent claudication, which may result in gangrene;
(almost 50% of patients), generating a tendency to strokes and heart attacks;
Respiratory damage due to immune disorders, which cannot adequately respond to infectious agents that cause inflammation. In this case, red blood cells begin to behave like suppressors and suppress the immunological response to viruses and tumors. In addition, they are in the blood in an abnormally high amount, which further aggravates the state of the immune system;
The kidneys and urinary tract suffer, so patients have a tendency to pyelonephritis, urolithiasis;
The central nervous system does not remain aloof from the events taking place in the body, when it is involved in the pathological process, symptoms appear (with thrombosis), (less often), insomnia, memory impairment, mnestic disorders.

Asymptomatic to end stage

Since for polycythemia initially asymptomatic, the above manifestations do not occur in one day, but accumulate gradually and for a long time, it is customary to distinguish 3 stages in the development of the disease.

Initial stage. The patient's condition is satisfactory, the symptoms are moderately severe, the duration of the stage is about 5 years.

Stage of developed clinical manifestations. It takes place in two stages:

II A - proceeds without myeloid metaplasia of the spleen, subjective and objective symptoms of erythremia are present, the duration of the period is 10-15 years;

II B - myeloid metaplasia of the spleen appears. This stage is characterized by a clear picture of the disease, the symptoms are pronounced, the liver and spleen are significantly enlarged.

terminal stage, which has all the signs of a malignant process. Complaints of the patient are diverse, "everything hurts, everything is wrong." At this stage, cells lose their ability to differentiate, which creates a substrate for leukemia, which replaces chronic erythremia, or rather, it turns into acute leukemia.

The terminal stage is characterized by a particularly severe course (hemorrhagic syndrome, rupture of the spleen, infectious and inflammatory processes that cannot be treated due to deep immunodeficiency). It usually ends in death soon after.

Thus, the life expectancy for polycythemia is 15-20 years, which may be not bad, especially considering that the disease can overtake after 60. And this means that there is a certain prospect of living up to 80 years. However, the prognosis of the disease still depends most of all on its outcome, that is, on what form of leukemia erythremia is transformed into at stage III (chronic myeloid leukemia, myelofibrosis, acute leukemia).

Diagnosis of Wakez disease

The diagnosis of polycythemia vera is mainly based on laboratory data with the determination of the following indicators:

, in which you can notice a significant increase in red blood cells (6.0-12.0 x 10 12 / l), (180-220 G / l), (plasma and red blood ratio). The number of platelets can reach the level of 500-1000 x 10 9 /l, while they can significantly increase in size, and leukocytes - up to 9.0-15.0 x 10 9 /l (due to rods and neutrophils). with true polycythemia is always reduced and can reach zero.

Morphologically, erythrocytes do not always change and often remain normal, but in some cases, erythremia can be observed anisocytosis(erythrocytes of different sizes). Platelets indicate the severity and prognosis of the disease with polycythemia in the general blood test (the more there are, the more severe the course of the disease);

BAC (biochemical blood test) with level determination And . For erythremia, the accumulation of the latter is very characteristic, which indicates the development of gout (a consequence of Wakez's disease);
Radiological examination using radioactive chromium helps to determine the increase in circulating red blood cells;
Sternal puncture (bone marrow sampling from the sternum) followed by cytological diagnosis. In the preparation hyperplasia of all three sprouts with a significant predominance of red and megakaryocytic;
Trepanobiopsy(histological examination of material taken from the ilium) - the most informative method that allows you to most reliably identify the main symptom of the disease - three-growth hyperplasia.

In addition to hematological parameters, to establish the diagnosis of polycythemia vera, the patient is sent for an ultrasound examination (ultrasound) of the abdominal organs (enlargement of the liver and spleen).

So, the diagnosis is established ... What's next?

And then the patient is waiting for treatment in the hematological department, where tactics are determined by clinical manifestations, hematological parameters and the stage of the disease. Therapeutic measures for erythremia usually include:

Bloodletting, which allows to reduce the number of red blood cells to 4.5-5.0 x 10 12 / l and Hb (hemoglobin) to 150 g / l. To do this, with an interval of 1-2 days, 500 ml of blood is taken until the number of erythrocytes and Hb drops. The bloodletting procedure is sometimes replaced by hematologists with erythrocytopheresis, when, after sampling by centrifugation or separation, red blood is separated, and the plasma is returned to the patient;
Cytostatic therapy (myelosan, imifos, hydroxyurea, hydroxycarbamide);
(aspirin, dipyridamole), which, however, require caution in use. So, acetylsalicylic acid can enhance the manifestation of hemorrhagic syndrome and cause internal bleeding if the patient has a stomach ulcer or duodenal ulcer;
Interferon-α2b, which is successfully used with cytostatics and increases their effectiveness.

The treatment regimen for erythremia is signed by the doctor for each case individually, so our task is only to briefly acquaint the reader with the drugs used to treat Wakez's disease.

Nutrition, diet and folk remedies

A significant role in the treatment of polycythemia is assigned to the regime of work (reduction of physical activity), rest and nutrition. In the initial stage of the disease, when the symptoms are not yet expressed or are weakly manifested, the patient is assigned table number 15 (general), however, with some reservations. The patient is not recommended to consume products that enhance hematopoiesis(liver, for example) and offer to revise the diet, giving preference to dairy and vegetable products.

In the second stage of the disease, the patient is assigned table number 6, which corresponds to the gout diet and limits or completely excludes fish and meat dishes, legumes and sorrel. Having been discharged from the hospital, the patient must adhere to the recommendations given by the doctor during outpatient observation or treatment.

Question: "Is it possible to treat folk remedies?" sounds with the same frequency for all diseases. Erythremia is no exception. However, as already noted, the course of the disease and the life expectancy of the patient depend entirely on timely treatment, the purpose of which is to achieve a long and stable remission and delay the third stage for the longest possible time.

During the calm period of the pathological process, the patient must still remember that the disease can return at any time, therefore, he must discuss his life without exacerbation with the attending physician, in whom he is observed, periodically take tests and undergo an examination.

Treatment of blood diseases with folk remedies should not be generalized, and if there are many recipes for increasing hemoglobin levels or for, this does not mean at all that they are suitable for the treatment of polycythemia, from which, in general, medicinal herbs not yet found. Wakez's disease is a delicate matter, and in order to control the function of the bone marrow and thus affect the hematopoietic system, you need to have objective data that can be assessed by a person with certain knowledge, that is, the attending physician.

In conclusion, I would like to say to readers a few words about relative erythremia, which cannot be confused with the true one, since relative erythrocytosis can occur against the background of many somatic diseases and successfully end with the cure of the disease. In addition, erythrocytosis as a symptom can accompany prolonged vomiting, diarrhea, burn disease and hyperhidrosis. In such cases, erythrocytosis is a temporary phenomenon and is associated primarily with dehydration of the body, when the amount of circulating plasma, which consists of 90% water, decreases.

Polycythemia (Wakez's disease) is a chronic disease of the hematopoietic system, in which the patient's blood increases: the number of red blood cells, circulating blood volume, hemoglobin level and hematocrit.

This disease belongs to the group of chronic leukemias.

Pathological anatomy reveals a sharp plethora of internal organs, often vascular thrombi, heart attacks, hemorrhages. In the bone marrow, the phenomena of hyperplasia (an increase in cellular elements) of an erythroblastic germ, in the diaphysis of long bones - the transformation of fatty bone marrow into red.

Causes of polycythemia : as numerous congenital or acquired disorders of the production of red blood cells (this is called primary polycythemia). If polycythemia is caused by some other original disease, it is secondary polycythemia. Most cases of polycythemia are secondary, that is, caused by other diseases.

Polycythemia in newborns (neonatal polycythemia) is often caused by transfer of maternal blood from the placenta. Prolonged insufficient oxygen supply to the fetus (intrauterine hypoxia) due to problems with the placenta also leads to neonatal polycythemia.

Primary polycythemia is rare.

Polycythemia has two forms:

- relative polycythemia (false, stress, pseudocythemia, Gaisbeck's syndrome) - the total mass of erythrocytes maintains a normal level, and an increase in ROE is a consequence of a decrease in plasma volume.

- true polycythemia (polycythemia red) - is characterized by a persistent increase in the mass of red blood cells, an increase in the spleen and increased activity of the bone marrow, and the hyperplastic process concerns not only erythropoiesis, but also leukopoiesis and thrombocytopoiesis.

There are three stages of polycythemia vera.

First stage of polycythemia(initial) - characterized by moderate erythrocytosis in the blood, panmyelosis in the red bone marrow. Vascular and visceral complications are rare. The spleen is somewhat enlarged, but it usually cannot be palpated (the enlargement of the spleen is due to increased sequestration of platelets and erythrocytes in it). The duration of the first stage may exceed 5 years.

The second stage of polycythemia. The expanded (proliferative) stage is characterized by a pronounced plethora, hepatosplenomegaly due to myeloid metaplasia of these organs, thrombosis recurs, patients become emaciated. In the blood, erythrocytosis, erythrocytosis and thrombocytosis or panmyelosis, neutrophilia with a shift of the leukocyte formula to the left, an increase in the content of basophils are detected. In the red bone marrow, total hyperplasia of three hematopoietic sprouts with pronounced megakaryocytosis is detected; reticulin and focal collagen myelofibrosis is possible. In the blood serum, the concentration of uric acid is increased.

Third stage of polycythemia- anemic (exhaustion). The liver and spleen are enlarged and show myeloid metaplasia. Pancytopenia increases in the blood, myelofibrosis progresses in the red bone marrow.

Symptoms of polycythemia : redness of the skin of the face, heaviness in the head, arterial hypertension occurs, the size of the spleen increases, itching appears, which intensifies after taking a bath. Also, the disease is characterized by: headache, tinnitus, dizziness, absent-mindedness, decreased vision, irritability.

Sometimes the first symptoms of the disease can be peripheral thrombosis, myocardial infarction.

Possible bleeding from the gums, stomach, intestines, uterus; the spleen and liver are enlarged; revealed arterial hypertension, a tendency to thrombosis.

As a result of lesions of the cardiovascular system, shortness of breath, angina pectoris, and sometimes myocardial infarction occur. Damage to peripheral vessels is manifested by venous and arterial thrombosis, erythromelalgia, Raynaud's phenomenon. When blood supply is disturbed in the gastrointestinal tract, flatulence and peptic ulcers occur.

With relative polycythemia: severe vomiting, diarrhea, sweating.

Hypertension is one of the most important and frequent symptoms of polycythemia.

Of great importance are lesions of peripheral vessels with the development of obliterating thromboangiitis, and sometimes blockage of arteries with gangrene, thrombosis of cerebral vessels, coronary arteries, splenic and renal arteries with the formation of heart attacks, thrombosis of the portal vein and its branches.

There are bleeding from the nose, gums, stomach, intestines, uterus, etc., hemorrhages in the brain, abdominal cavity, spleen.

Splenomegaly is observed in 2/3-¾ of all cases. Enlargement and thickening of the liver is noted in 1/3-½ patients.

There are no marked changes in the condition of the kidneys.

In the blood, the content of erythrocytes is increased to 6 -8 × 109 g / l (6 - 8 million in 1 μl of blood), hemoglobin (180-200 g / l), ESR is reduced to 1 - 3 mm / h.

Risk factors for polycythemia:

- chronic hypoxia.

- pulmonary hypertension.

- prolonged smoking.

- hypoventilation syndrome.

- family predisposition.

- congestive heart failure.

- living high in the mountains.

living in a polluted city.

- COPD (emphysema, chronic bronchitis).

- violation of blood flow in the kidneys.

Polycythemia occurs as a result of mutation of a stem pluripotent cell. Examination of the bone marrow in women with polycythemia vera proves the presence of two types of erythroid cells in this disease. The cells of one population are autonomous and grow even in the absence of erythropoietin, while the second population behaves absolutely normally, while remaining erythropoietin dependent. And thus, as a result of research, it turned out that the first population is a kind of autonomous mutated clone.

The level of erythropoietin in the plasma and urine of patients with true polycythemia constantly fluctuates from acceptable values to zero, increasing accordingly as a result of bloodletting. The low level of erythropoietin is explained by the inhibition of its production in the likeness of feedback, due to an increase in erythrocyte mass.

Polycythemia develops most often in old age (40-60 years), however, cases of the disease in young and even childhood have been described. The disease usually develops gradually. The life expectancy of patients from the moment of detection of the disease now reaches an average of 13.3 years [Lawrence (J. N. Lawrence)], and in some cases even up to 30 years or more (E. D. Oak and M. A. Yasinovsky).

Treatment of polycythemia.

Treatment takes place in a hospital and includes: erythrocytapheresis, repeated bloodletting, the appointment of cytostatic drugs (myelosan, imifos, myelobromol).

The goal of treatment is to reduce the likelihood of vascular complications by lowering the ROE and keeping it at an acceptable level, as well as combating concomitant thrombocytosis.

Existing treatments are controversial. Rapid improvement occurs as a result of bloodletting. This procedure in the elderly should be carried out very carefully, not forgetting that such patients often suffer from cardiovascular diseases.

It is recommended to remove 250-300 ml of blood weekly until the ROE decreases to the desired level. In the event that a decrease in blood volume is not possible, it is possible to introduce an equivalent volume of high molecular weight dextran instead of the removed blood. Carrying out the primary treatment course, it is necessary to monitor the growth of BOE. It should be remembered that bloodletting leads to the appearance of iron deficiency anemia.

It is not always possible to maintain the number of red blood cells at an acceptable level by bloodletting, since they do not suppress the production of these cells in the bone marrow. In this case, it is necessary to use myelodepressive therapy.

Human blood has a not very complex composition, thanks to which the human body functions. If at least something changes, many organs suffer and important functions get lost.

For example, if the number of red blood cells increases, this means that polycythemia is developing.

This word is a group of pathologies, the characteristics of which are given in the previous sentence. Moreover, this word does not apply mainly to the description of the number of platelets and leukocytes, because this, as they say, is a completely different story, more precisely, other diseases.

This disease has another name - Wakez's disease. The fact is that it was first described by the French clinician Vakez, and this happened in 1892. It is considered a disease of the second half of life, as it mainly affects people aged 40 to 50 years. Rare cases have been reported in young patients over 25 years of age. Men are more susceptible to this condition than women. There are cases when the disease affected several members of the same family.

Causes

As we found out, the main problem is the increase in the number of red blood cells. There are explanations for this. The number of red blood cells usually increases if hematopoiesis is normal, and the degree of hemorrhage decreases. However, with Wakez's disease, blood destruction does not decrease, but increases. Then why are there more red blood cells? Such a state is observed with an extended life of each erythrocyte, but even this theory does not hold for the disease of interest to us.

Maybe there is another reason for the change in the number of cells? Eat. It can be described as an increased production of red blood cells that exceeds their destruction, even if it is increased.

This is exactly what happens in Wakez disease. Then another question arises: why are red blood cells produced in huge quantities? It is impossible to name the exact cause of this condition. For several years, experts have found that various factors can influence this, for example:

enlargement of the spleen;
high blood pressure;
hereditary predisposition.

The mass of red blood cells increases only with one form of the disease - polycythemia vera, which we will discuss below. Moreover, this condition is characterized by both primary and secondary polycythemia.

Another interesting discovery was made. In one patient who died due to symptoms of polycythemia, a large number of megakaryocytes were found in the pulmonary capillaries. The researcher who discovered this suggested that the increased reproduction of these particles in the bone marrow causes an unknown stimulus, as well as their increased washing out of it. They, stuck in the pulmonary capillaries, lead to impaired oxygen metabolism, anoxemia and a persistent increase in red blood cells. However, so far this observation remains isolated.

There are two main forms of Wakez disease:

relative form;
true polycythemia.

The latter form is considered to be an already progressive chronic disease of the myeloproliferative type. It is characterized by an absolute increase in the mass of red blood cells. Relative form can also be defined as false and stress.

True polycythemia is considered a fairly rare disease. American scientists have found that three to five cases per million people are registered every year. The disease, as we said at the beginning, mainly develops in middle-aged and elderly people, and the average age is gradually increasing. In addition, studies have shown that Jews get sick more often and Africans less often, although these observations have not yet been scientifically proven.

It is important to subdivide the causes of the disease into two groups.

primary reasons. These are acquired or congenital disorders associated with the production of red blood cells and lead to Wakez disease. There are two main states in this group. The first of these is Wakez vera disease, which is associated with a mutation in the JAK2 gene that increases sensitivity in the EPO of bone marrow cells. This just leads to an increase in the number of red blood cells. This condition is often characterized by an increase in other cells, such as platelets. The second is a primary congenital or familial condition. In this case, the mutation occurs in the EPOR gene. In response to EPO, an increase in red blood cells occurs.
secondary reasons. They are based on the formation of an excess number of red blood cells due to the high level of EPO that circulate in the bloodstream. In this case, the specific causes are chronic hypoxia, poor oxygen supply, as well as tumors that produce too much EPO. There are several conditions that lead to an increase in erythropoietin due to insufficient oxygen supply or hypoxia: pulmonary hypertension, chronic bronchitis, emphysema, COPD, hypoventilation syndrome, living in high mountains, sleep apnea, congestive heart failure, poor blood flow to the kidneys.

The disease can occur due to chronic carbon monoxide. Hemoglobin has a higher ability to attach carbon monoxide molecules, rather than oxygen molecules. Erythrocytosis can occur as a reaction to the addition of carbon monoxide molecules to hemoglobin. It turns out that there is a compensation for the lack of oxygen by existing hemoglobin, more precisely, by its molecules.

By the way, a similar picture is observed with oxygen dioxide when a person has such a bad habit as smoking. There are also so-called mild conditions that can lead to a large secretion of EPO - these are renal obstruction and kidney cysts. All of the above reasons mainly refer to people who are mature in terms of age.

Polycythemia in newborns can occur due to the transfer of blood to the mother from the placenta, as well as during transfusion. If intrauterine hypoxia occurs due to placental insufficiency, Wakez's disease may also develop.

Symptoms

The disease begins to develop gradually. At first it is difficult to identify specific symptoms. There are symptoms such as:

disability;
increasing fatigue;
heaviness in the head;
flushes to the head;
dizziness;
shortness of breath with strong movements;
cramps in the calves;
goosebumps in the legs;
unusually healthy complexion;
nosebleeds;
chilliness.

An objective examination reveals an unusual coloration of the skin, it becomes purplish red and dark red. It is similar to the complexion when inhaling amyl nitrite, being heavily intoxicated, after taking a steam bath, and so on. However, this should not be confused with cyanosis.

Skin turns purplish red and dark red

A peculiar coloration is especially visible on the hands, neck and face, but the shells of the ears are most brightly colored. The lips are blue-red, the pharynx and tongue are dark red. If you pay attention to the bottom of the eye, you can see that the vessels in it are sharply enlarged, then there are more of them, and they are overflowing with blood.

From the side of the vessels and the heart, there is an expansion of cardiac boundaries and edema. However, the phenomena of these parts of the body appear late or are absent altogether, because the circulatory system is able to adapt amazingly to the slowly developing changes that occur in the blood.

On the part of digestion, there are frequent constipation, a feeling of heaviness and pain in the abdomen. This is due to the enlargement of the spleen. Sometimes mental disorders are described. For example, there may be forgetfulness or deeper changes such as a state of stupor or arousal. The patient may complain of transient blindness and blurred vision, as well as tinnitus. When pressure is applied, the bones are painful. The temperature is within normal limits.

Diagnostics

Most often, polycythemia vera is discovered by chance, when examining blood samples, the tests of which are prescribed by a doctor for various medical reasons.

Once blood tests have revealed abnormalities associated with Wakez disease, further investigations need to be performed.

It is important to diagnose the lungs and heart. A characteristic feature of the disease is an increase in the spleen, so it is necessary to carefully examine the condition of the abdominal cavity.

The main components of the tests carried out in the laboratory are:

clinical blood test;
analysis of the metabolic composition of the blood;
blood clotting test.

Also held:

chest x-ray;
echocardiography;
analysis to assess the level of carbon monoxide;
hemoglobin analysis.

Sometimes it is necessary to examine the bone marrow, so a biopsy or bone marrow aspiration is performed. It is also recommended to check the JAK2 gene. It is not necessary to check the level of EPO, although this can sometimes help in making a diagnosis. Typically, the primary form of the disease is characterized by a low level of EPO, however, in tumors that secrete EPO, the level, on the contrary, may be higher.

Care must be taken in interpreting the results, because high EPO levels may be a response to chronic hypoxia if this factor is the main cause of Wakez's disease.

Treatment

Treatment for the secondary form of Wakez disease depends on the cause. If the patient has chronic hypoxia, supplemental oxygen may be given. Other treatments are usually directed at the cause of the disease.

For those diagnosed with the primary form of the disease, it is important to take some simple steps to help alleviate their condition at home. For example, you should maintain a sufficient balance of water in the body, as this will help to avoid dehydration and increased blood concentration.

There are no restrictions on physical activity. With an enlarged spleen, it is important to avoid contact activities and sports, as rupture or damage to the spleen cannot be allowed. It is also important not to eat foods that contain iron.

The main therapy is bloodletting, the aim of which is to maintain an acceptable hematocrit, in women it should be 42%, in men 45%. Initially, bloodletting is done every two or three days, removing 250-500 milliliters of blood, meaning each procedure. If the goal is achieved, the procedure is performed less frequently in order to only maintain the achieved level.

The treatment also uses aspirin, which reduces the risk of blood clotting, and, therefore, the formation of blood clots. However, this drug should not be used by people who have had a history of bleeding.

Consequences

The course of the disease is divided into three phases.

The initial phase lasts several years. At this time, the symptoms of polycythemia are mild or absent.
erythremic phase. In this period, not only the classic signs develop, but also the main complications. This phase can take several years, and the majority of patients die in it.
The occurrence of myelosclerosis, and sometimes leukemia.

We can say that the survival period has increased, this is especially true for younger patients. The average life expectancy, if counted from the time of diagnosis, is 13 years. The main cause of death is vascular complications.

Prevention

True polycythemia is a dangerous disease. Some causes cannot be prevented, although there are several potential preventive measures:

management of lung disease, sleep apnea and heart disease;
avoiding prolonged exposure to carbon monoxide;
to give up smoking.

Of course, if the disease is based on gene mutation, it is impossible to prevent the consequences, but every effort must be made to maintain a positive attitude and try to live any life span, pleasing yourself and your loved ones.